[11q distal trisomy due to a familial 11;18 translocation].
A seven-month-old boy with a distal trisomy 11q resulting from a maternal t(11;18)(q23;p11) is described. His main clinical features were microbrachycephaly, long philtrum, retracted lower lip, short neck, cardiac septal defect, and psychomotor retardation. It is concluded that the phenotype of the trisomy 11q is independent of the size of the duplication whenever the segment 11q23----qter is involved.
Menéndez
I
I
División de Genética, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco.
Rivera
H
H
Morales
E
E
Juan
J
J
Jiménez
M
M
D000015:Abnormalities, Multiple / Q000235:genetics; D002880:Chromosomes, Human, Pair 11; D002887:Chromosomes, Human, Pair 18; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D008831:Microcephaly / Q000235:genetics; D010641:Phenotype; D014178:Translocation, Genetic / Q000235:genetics*; D014314:Trisomy
Trisomía 11q distal por translocación 11;18 familiar.